Diffuse lung disease (DLD), traditionally known as interstitial lung disease (ILD), consists of a diverse group of disorders that involve the pulmonary parenchyma and interfere with gas exchange. Although some of the conditions that cause DLD in children and adults are similar, they occur in different proportions in each population. In addition, certain diseases are unique to infants [1-6].

Children with DLD may present with respiratory failure, or with more indolent or chronic symptoms including tachypnea, hypoxemia, retractions, cough, exercise intolerance, failure to thrive, gastroesophageal reflux, or other nonspecific symptoms. Thus, the differential diagnosis is broad, and the first approach is to exclude more common causes for this presentation, including infection, immunodeficiency, structural airway abnormalities, congenital heart disease, and cystic fibrosis [7]. Once more common explanations are excluded, a child with unexplained pulmonary symptoms and diffuse pulmonary infiltrates should be given a provisional diagnosis of DLD, and further investigations to determine a specific cause are warranted [7]. Establishing a definitive diagnosis may inform prognosis, genetic counseling for families, and in some cases may alter treatment decisions. However, for many forms of DLD, treatment options are limited and often include drugs of unproven efficacy with substantial side effects. Thus, DLD presents a diagnostic and therapeutic challenge, even to the most experienced pediatric pulmonologist.

This topic review provides an approach to the diagnosis and management of DLD (including interstitial lung diseases) in infants and children. Other topic reviews with related content include:

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